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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-67922971-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=67922971&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 67922971,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022079.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "NM_015601.4",
"protein_id": "NP_056416.2",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373700.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015601.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000373700.9",
"protein_id": "ENSP00000362804.4",
"transcript_support_level": 1,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015601.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373700.9"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3134T>A",
"hgvs_p": "p.Ile1045Asn",
"transcript": "ENST00000395198.7",
"protein_id": "ENSP00000378624.3",
"transcript_support_level": 1,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395198.7"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2900T>A",
"hgvs_p": "p.Ile967Asn",
"transcript": "ENST00000412272.6",
"protein_id": "ENSP00000416504.2",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 979,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412272.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.2804T>A",
"hgvs_p": "p.Ile935Asn",
"transcript": "ENST00000277817.10",
"protein_id": "ENSP00000277817.6",
"transcript_support_level": 1,
"aa_start": 935,
"aa_end": null,
"aa_length": 947,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000277817.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*2504T>A",
"hgvs_p": null,
"transcript": "ENST00000473533.6",
"protein_id": "ENSP00000423671.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473533.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "n.*2504T>A",
"hgvs_p": null,
"transcript": "ENST00000473533.6",
"protein_id": "ENSP00000423671.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473533.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3227T>A",
"hgvs_p": "p.Ile1076Asn",
"transcript": "ENST00000930767.1",
"protein_id": "ENSP00000600826.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930767.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3227T>A",
"hgvs_p": "p.Ile1076Asn",
"transcript": "ENST00000946404.1",
"protein_id": "ENSP00000616463.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1088,
"cds_start": 3227,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946404.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3203T>A",
"hgvs_p": "p.Ile1068Asn",
"transcript": "ENST00000868738.1",
"protein_id": "ENSP00000538797.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1080,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868738.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3203T>A",
"hgvs_p": "p.Ile1068Asn",
"transcript": "ENST00000868741.1",
"protein_id": "ENSP00000538800.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1080,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868741.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3200T>A",
"hgvs_p": "p.Ile1067Asn",
"transcript": "ENST00000946407.1",
"protein_id": "ENSP00000616466.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3200,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946407.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3185T>A",
"hgvs_p": "p.Ile1062Asn",
"transcript": "ENST00000868739.1",
"protein_id": "ENSP00000538798.1",
"transcript_support_level": null,
"aa_start": 1062,
"aa_end": null,
"aa_length": 1074,
"cds_start": 3185,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868739.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3134T>A",
"hgvs_p": "p.Ile1045Asn",
"transcript": "NM_022079.3",
"protein_id": "NP_071362.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022079.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3134T>A",
"hgvs_p": "p.Ile1045Asn",
"transcript": "ENST00000868742.1",
"protein_id": "ENSP00000538801.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868742.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3134T>A",
"hgvs_p": "p.Ile1045Asn",
"transcript": "ENST00000930771.1",
"protein_id": "ENSP00000600830.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1057,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930771.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000868737.1",
"protein_id": "ENSP00000538796.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868737.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000868744.1",
"protein_id": "ENSP00000538803.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868744.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000930772.1",
"protein_id": "ENSP00000600831.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930772.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000946405.1",
"protein_id": "ENSP00000616464.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946405.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000946406.1",
"protein_id": "ENSP00000616465.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1049,
"cds_start": 3110,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946406.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC4",
"gene_hgnc_id": 24521,
"hgvs_c": "c.3110T>A",
"hgvs_p": "p.Ile1037Asn",
"transcript": "ENST00000946412.1",
"protein_id": "ENSP00000616471.1",
"transcript_support_level": null,
"aa_start": 1037,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}